Okur-Chung Neurodevelopmental Syndrome: A Case Report in One Chinese Neonate and Review of Literature

作者全名："Zhao, Q. Q.; Wei, H.; Hu, Y."

作者地址："[Zhao, Q. Q.; Wei, H.; Hu, Y.] Chongqing Med Univ, Dept Neonatol,China Int Sci & Technol Cooperat Ba, Childrens Hosp,Key Lab Child Dev & Disorders,Chon, Natl Clin Res Ctr Child Hlth & Disorders,Minist E, Chongqing 400014, Peoples R China"

通信作者："Hu, Y (通讯作者)，Chongqing Med Univ, Dept Neonatol,China Int Sci & Technol Cooperat Ba, Childrens Hosp,Key Lab Child Dev & Disorders,Chon, Natl Clin Res Ctr Child Hlth & Disorders,Minist E, Chongqing 400014, Peoples R China."

来源：HONG KONG JOURNAL OF PAEDIATRICS

ESI学科分类：CLINICAL MEDICINE

WOS号：WOS:000928276400007

JCR分区：Q4

影响因子：0.1

年份：2023

卷号：28

期号：1

开始页：31

结束页：35

文献类型：Review

关键词：Case report; CSNK2A1; Neonate; Okur-Chung neurodevelopmental syndrome

摘要："Background: Okur-Chung neurodevelopmental syndrome (OCNDS) is a rare mendelian disease related to the CSNK2A1 gene variant. So far, there is no report of confirmed case in the neonatal period. Methods: The clinical characteristics and importance in early diagnosis of genetic testing in a newborn with OCNDS were retrospectively reported.Findings: A 14-day-old, female, and full-term neonate characterised by the poor response, weak low cry, congenital heart disease, and special facial features was referred to our Neonatal Intensive Care Unit. This patient was confirmed to carry one novel variant in the CSNK2A1 gene (p.K198T) with whole-exome sequencing testing. This variant was classified as pathogenic and the cause of the presentation in this neonate.Conclusions: It is very necessary for a neonate with poor response and long-time weak low cry if routine examinations show no definite findings to make a genetic diagnosis as early as possible."

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